scholarly journals Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected

2020 ◽  
Vol 8 ◽  
Author(s):  
Jinzhi Gao ◽  
Ling Chen
Keyword(s):  
Neonatal Period ◽  
Case Series ◽  
Adrenocortical Insufficiency

scholarly journals Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected

2015 ◽  
Vol 85 (1) ◽  
pp. 35-42 ◽  
Author(s):  
Sarah L. Tsai ◽  
Jane Green ◽  
Lou A. Metherell ◽  
Fiona Curtis ◽  
Bridget Fernandez ◽  
...  
Keyword(s):  
Case Series ◽  
Adrenocortical Insufficiency

PP-36. Purpura fulminans in newborn case series and report of three rare causative agents in the neonatal period

2010 ◽  
Vol 86 ◽  
pp. S32-S33
Author(s):  
Melek Akar ◽  
Gamze Demirel ◽  
Gonca Sandal ◽  
Omer Erdeve ◽  
Nurdan Uras ◽  
...  
Keyword(s):  
Neonatal Period ◽  
Purpura Fulminans ◽  
Case Series ◽  
Causative Agents

Resurgence of syphilis: the largest case series of syphilis in pregnancy and the neonatal period in UK

2010 ◽  
Vol 95 (Supplement 1) ◽  
pp. Fa51-Fa51
Author(s):  
B. Radhakrishnan ◽  
S. Seshadri ◽  
D. Uchil ◽  
A. Sau ◽  
A. Jolaoso ◽  
...  
Keyword(s):  
Neonatal Period ◽  
Case Series ◽  
In Pregnancy

scholarly journals Triple Atresia, Triple Threat? An Unusual Constellation of Primary Surgical Abnormalities

2021 ◽  
Vol 13 (2) ◽  
pp. 189-196
Author(s):  
Raef Jackson ◽  
Carmen Francis ◽  
Karim Awad ◽  
Semiu E. Folaranmi
Keyword(s):  
Literature Review ◽  
Neonatal Period ◽  
Oesophageal Atresia ◽  
Case Series ◽  
Duodenal Atresia ◽  
Vacterl Association ◽  
Term Survival ◽  
Staged Approach ◽  
Definitive Surgery

We present a case series of two patients with tracheo-oesophageal fistula with oesophageal atresia (TOF/OA), duodenal atresia (DA) and ano-rectal malformation (ARM). This constellation of abnormalities, dubbed triple atresia (TA), is a rare combination with few described cases in the literature. Here we describe our management of these cases, as well as the results of our literature review. Both of our cases had staged surgical procedures and were initially managed with thoracotomy for repair of TOF/OA on day two of life. They subsequently underwent laparotomy for management of their abdominal pathology at day five and seven of life. Both have survived the neonatal period and are awaiting definitive surgery for ARM. Literature review yielded seven cases of TA involving a TOF, DA, and ARM. Four patients underwent staged repair, while three patients underwent repair of TOF/OA, DA and colostomy for ARM at the same time. Of these three patients, two died, representing 22% of the overall cohort. Triple atresia remains a rare subset of patients suspected to have VACTERL association, however mortality may be significantly higher. Our data would suggest a staged approach to be optimal for long term survival.

scholarly journals CONGENITAL CHOANAL ATRESIA: A CASE SERIES

2021 ◽  
pp. 1-3
Author(s):  
Mainak Maitra ◽  
Mukesh Kumar Singh
Keyword(s):  
Differential Diagnosis ◽  
Surgical Technique ◽  
Respiratory Distress ◽  
Neonatal Period ◽  
Choanal Atresia ◽  
Case Series ◽  
Nasal Discharge ◽  
Female Ratio ◽  
Oral Airway ◽  
Male To Female

Congenital Choanal Atresia (CA) is the failure in the development in communication between the nasal cavity and the nasopharynx. Its incidence is 1 in 7000 births. The male to female ratio for infants with choanal atresia is 2.2. Approximately two-thirds of cases are unilateral. Structurally there are two main types– a) Osseous-90% b) Membranous. Bilateral CA is an important but rare cause of respiratory distress in newborn. The distress improves with an oral airway. Here 3 paediatric cases of congenital choanal atresia are being discussed. Choanal atresia as a differential diagnosis should always be kept in mind in children presenting with respiratory distress in early neonatal period and in patients presenting with unilateral nasal discharge. Endoscopic surgical technique of choanal atresia repair along with stenting was done in all the 3 cases.

scholarly journals Neonatal Atrial Flutter Approach: A Case Series

2020 ◽  
Vol 32 (4) ◽  
pp. 245-251
Author(s):  
Fernanda Pessa Valente ◽  
Gustavo Henrique Belarmino Góes ◽  
Caroline Bernardi Fabro ◽  
Afonso Luiz Tavares Albuquerque ◽  
Dário Celestino Sobral Filho
Keyword(s):  
Atrial Flutter ◽  
Medical Records ◽  
Neonatal Period ◽  
Case Series ◽  
Electrical Cardioversion ◽  
Diagnostic Methods ◽  
Ventricular Rate ◽  
Third Trimester ◽  
Fetal Ultrasound

Objective: This study set out to analyze the therapeutic options of patients with neonatal atrial flutter (AFL), considering the diagnostic methods available and the prognosis of these patients. Methodology: A retrospective study was performed by reviewing the medical records of a series of seven patients with atrial fibrillation (AF) diagnosed during fetal or neonatal period. The follow-up time of these patients ranged from 7 months to 3 years and 8 months (mean: 1 year). The clinical data for the diagnosis included sustained heart rate greater than 180 bpm, which was confirmed in all patients by a 12-lead electrocardiogram. Results: Four (57.1%) of the 7 patients studied were male. Most of the patients revealed cardiac arrhythmia during the intrauterine period when screened by fetal ultrasound in the third trimester of gestation (5 patients, i.e. 71.2%). Only the mother of Patient 2 was administered digoxin before childbirth. The atrial rate of the tachyarrhythmia revealed a mean of 375 bpm, with an increase of up to 500 bpm. Atrioventricular conduction presented a 2:1 ratio in all patients, with variations of 3:1 and 4:1 observed in Patients 1, 3 and 6. The ventricular rate ranged from 188 to 250 bpm. All patients revealed typical and counter-clockwise electrocardiogram characteristics. Synchronized electrical cardioversion was the treatment of choice in 6 patients (85.7%), with a dose of 1 J/kg. Conclusion: Early diagnosis, prior treatment, and synchronized electrical cardioversion indicate an excellent prognosis, and prolonged maintenance treatment may be unnecessary.

scholarly journals Pseudohypoaldosteronism type 1: clinical features and management in infancy

2013 ◽  
Vol 2013 ◽  
Author(s):  
N Amin ◽  
N S Alvi ◽  
J H Barth ◽  
H P Field ◽  
E Finlay ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Genetic Testing ◽  
Neonatal Period ◽  
Case Series ◽  
Electrolyte Imbalance ◽  
Sweat Test ◽  
Renal Ultrasound ◽  
List Type ◽  
Tract Infections

Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels. The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively. A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing. Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age. Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy. In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66 000 and 1:166 000 respectively.

Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series

2019 ◽  
Vol 32 (7) ◽  
pp. 767-774 ◽  
Author(s):  
Shilpa Mehta ◽  
Preneet Cheema Brar
Keyword(s):  
Neonatal Period ◽  
Case Series ◽  
Severe Hypoglycemia ◽  
Glucose Infusion ◽  
Pituitary Stalk ◽  
Metabolic Complication ◽  
Average Blood Glucose ◽  
High Index Of Suspicion ◽  
Congenital Hypopituitarism ◽  
Mean Glucose

Abstract Background Persistent hypoglycemia (PH) beyond 3 days of life warrants investigation which includes a critical sample. We report our case series of five neonates who presented with PH as the first sign of congenital hypopituitarism. Design This is a case series. Methods/Results This is a case series of five neonates evaluated at our academic institution in a 3-year period (2013–2016), who presented with persistent severe hypoglycemia and were subsequently diagnosed with congenital hypopituitarism. All neonates were full term (mean gestational age 39.8 ± 1.4 weeks) born by caesarian section with a mean weight of 3.5 ± 0.16 kg and a mean length of 51.2 ± 1.2 cm at birth. All five neonates had PH beyond 3 days with an average blood glucose (BG) <35 mg/dL at presentation, requiring a mean glucose infusion rate (GIR) of 7.22 ± 1.98 mg/kg/min. The average BG during the critical sample was 42 ± 0.16 mg/dL (three patients). The mean duration of requirement of the glucose infusion was 6.2 ± 3 days during the immediate neonatal period. Diagnosis of the hypopituitarism took 2–52 days from the initial presentation of hypoglycemia. Besides growth hormone (GH) deficiency, cortisol deficiency was diagnosed in all the five neonates. Neuroimaging findings in all the neonates were consistent with pituitary stalk interruption syndrome (hypoplastic anterior pituitary, ectopic posterior pituitary [EPP] and interrupted pituitary stalk). Conclusions Hypoglycemia is a common metabolic complication affecting an infant in the immediate neonatal period. Delay in the diagnosis of hypopituitarism presenting as hypoglycemia is the result of the lack of awareness among neonatologists and/or pediatricians. We propose that providers be cognizant that PH can be the only presentation of hypopituitarism in the neonatal period. Therefore, having a high index of suspicion about this condition can avoid a delay in the evaluation, diagnosis and treatment of hypopituitarism.

scholarly journals Midgut malrotation: case series

2021 ◽  
Author(s):  
Dimple Gupta ◽  
Shivani B. Paruthy ◽  
Anirban Das ◽  
Radhika Thakur
Keyword(s):  
Intestinal Obstruction ◽  
Neonatal Period ◽  
Case Series ◽  
Acute Intestinal Obstruction ◽  
Definitive Diagnosis ◽  
Chronic Abdominal Pain ◽  
Midgut Malrotation ◽  
Abdominal Symptoms ◽  
Left Hypochondrium ◽  
Left Abdomen

Mal rotation of midgut is associated with other anomalies usually encountered in neonatal period or early childhood. If undetected in childhood it presents in adulthood with small bowel obstruction, repeated appendicitis or chronic abdominal symptoms. CECT abdomen is mandatory for diagnosis though it often presents as surgical surprise on abdominal laparotomy. Hereby, we presented 3 cases where it was undetected till adulthood though CECT was mandatory for definitive diagnosis. Case 1 patient presented with chronic abdominal pain on left abdomen was actually malrotation with appendix lying on left hypochondrium and stenosed fourth part duodenum adding to vomiting off and on. Case 2 patient in adulthood presented with repeated sub-acute intestinal obstruction because of midgut mal-rotation. Relieved after Ladd band was cut and obstructive symptoms relieved. Case 3 patient had inflammed appendix in subhepatic position was cause of chronic pain with para duodenal hernial sac adding to intestinal obstruction with malrotation of midgut.

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